Abstract：
OBJECTIVE: Spinal muscular atrophy (SMA) is a multisystem disorder. We assessed metabolic syndrome (MetS) prevalence in adults with SMA and its association with motor function, quality of life (QoL), fatigue, and depression.
METHODS: MetS was diagnosed using 2009 consensus criteria. Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), Fatigue Severity Scale (FSS), Beck Depression Inventory (BDI), and 36-Item Short Form Health Survey (SF-36) were recorded and correlations between muscle function, depression, fatigue, QoL, and MetS were analyzed.
RESULTS: We included 36 individuals (18 males; mean age: 38.7 ± 14.6 years). MetS was present in 25.0%. The most common component of MetS was central obesity (69.7%). Nearly half of the SMA individuals exhibited at least one abnormal lipid level result. Individuals with MetS more frequently were SMA type 3 (77.8% vs. 37.0%, p = .02) and had higher levels of fatigue (48.4 ± 6.7 vs. 39.5 ± 11.6, p = .03) than those without MetS. No associations of the presence of MetS with ambulatory status or HFMSE/RULM scores were observed. SMA individuals with MetS scored significantly lower in mental and social domains of QoL and total SF-36 score (p = .04). We observed weak to moderate correlations between the presence of MetS and SMA type, presence of comorbidities, QoL, and fatigue.
CONCLUSIONS: The frequency of MetS was modestly higher among adults with SMA than in the general population, particularly in SMA type 3. MetS was associated with reduced QoL and increased fatigue. Larger studies are needed to fully understand the significance of MetS in adults with SMA.
METHODS: MetS was diagnosed using 2009 consensus criteria. Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), Fatigue Severity Scale (FSS), Beck Depression Inventory (BDI), and 36-Item Short Form Health Survey (SF-36) were recorded and correlations between muscle function, depression, fatigue, QoL, and MetS were analyzed.
RESULTS: We included 36 individuals (18 males; mean age: 38.7 ± 14.6 years). MetS was present in 25.0%. The most common component of MetS was central obesity (69.7%). Nearly half of the SMA individuals exhibited at least one abnormal lipid level result. Individuals with MetS more frequently were SMA type 3 (77.8% vs. 37.0%, p = .02) and had higher levels of fatigue (48.4 ± 6.7 vs. 39.5 ± 11.6, p = .03) than those without MetS. No associations of the presence of MetS with ambulatory status or HFMSE/RULM scores were observed. SMA individuals with MetS scored significantly lower in mental and social domains of QoL and total SF-36 score (p = .04). We observed weak to moderate correlations between the presence of MetS and SMA type, presence of comorbidities, QoL, and fatigue.
CONCLUSIONS: The frequency of MetS was modestly higher among adults with SMA than in the general population, particularly in SMA type 3. MetS was associated with reduced QoL and increased fatigue. Larger studies are needed to fully understand the significance of MetS in adults with SMA.
摘要：
目的：脊髓性肌萎缩症（SMA）是一种多系统疾病。我们评估了成年SMA患者的代谢综合征（MetS）患病率及其与运动功能的关系。生活质量（QoL），疲劳,和抑郁症。
方法：使用2009年共识标准诊断MetS。Hammersmith功能电机秤扩展（HFMSE），修改上肢模块(RULM)疲劳严重程度量表（FSS），贝克抑郁量表(BDI)，和36项简短的健康调查(SF-36)记录和肌肉功能之间的相关性，抑郁症,疲劳,QoL,和MetS进行了分析。
结果：我们包括36名个体（18名男性；平均年龄：38.7±14.6岁）。MetS占25.0%。MetS最常见的成分是中心性肥胖（69.7％）。将近一半的SMA个体表现出至少一种异常脂质水平结果。患有MetS的人更常见的是SMA3型（77.8%与37.0%,p=.02），并且疲劳程度更高（48.4±6.7vs.39.5±11.6，p=.03）比没有MetS的那些。未观察到MetS的存在与动态状态或HFMSE/RULM评分的关联。患有MetS的SMA个体在QoL和SF-36总分的心理和社会领域得分显着降低（p=.04）。我们观察到MetS的存在和SMA类型之间的弱到中等的相关性，合并症的存在，QoL,和疲劳。
结论：患有SMA的成年人中MetS的频率略高于普通人群，特别是在SMA类型3。MetS与QoL降低和疲劳增加相关。需要进行更大规模的研究才能充分了解MetS在SMA成人中的重要性。
方法：使用2009年共识标准诊断MetS。Hammersmith功能电机秤扩展（HFMSE），修改上肢模块(RULM)疲劳严重程度量表（FSS），贝克抑郁量表(BDI)，和36项简短的健康调查(SF-36)记录和肌肉功能之间的相关性，抑郁症,疲劳,QoL,和MetS进行了分析。
结果：我们包括36名个体（18名男性；平均年龄：38.7±14.6岁）。MetS占25.0%。MetS最常见的成分是中心性肥胖（69.7％）。将近一半的SMA个体表现出至少一种异常脂质水平结果。患有MetS的人更常见的是SMA3型（77.8%与37.0%,p=.02），并且疲劳程度更高（48.4±6.7vs.39.5±11.6，p=.03）比没有MetS的那些。未观察到MetS的存在与动态状态或HFMSE/RULM评分的关联。患有MetS的SMA个体在QoL和SF-36总分的心理和社会领域得分显着降低（p=.04）。我们观察到MetS的存在和SMA类型之间的弱到中等的相关性，合并症的存在，QoL,和疲劳。
结论：患有SMA的成年人中MetS的频率略高于普通人群，特别是在SMA类型3。MetS与QoL降低和疲劳增加相关。需要进行更大规模的研究才能充分了解MetS在SMA成人中的重要性。
